11378[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 155088	GRCh38/hg38 7q21.13(chr7:88517003-90255387)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155067	GRCh38/hg38 7q21.13(chr7:88517003-90256109)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148934	GRCh38/hg38 7q21.13(chr7:88520043-90261496)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GLikely benign
Select item 148558	GRCh38/hg38 7q21.13(chr7:88520043-90253333)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59623	GRCh38/hg38 7q21.13(chr7:88520043-90241919)x3	LOC105375387, LOC113748415 +12 more	Copy number gain	See cases	GUncertain significance
Select item 59624	GRCh38/hg38 7q21.13(chr7:88521030-90256023)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 160831	GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GUncertain significance
Select item 32442	GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 154532	GRCh38/hg38 7q21.13(chr7:88685497-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GPathogenic
Select item 155134	GRCh38/hg38 7q21.13(chr7:88724612-90261496)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148222	GRCh38/hg38 7q21.13(chr7:88724612-90253333)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GLikely benign
Select item 151201	GRCh38/hg38 7q21.13(chr7:89467226-90255387)x3	CFAP69, LOC105375387 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154382	GRCh38/hg38 7q21.13(chr7:89490493-90170632)x3	LOC105375387, LOC126860099 +3 more	Copy number gain	See cases	GUncertain significance
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	CDK14, CFAP69 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1338847	GRCh38/hg38 7q21.13(chr7:89998146-90352986)	GTPBP10, LOC101927446 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2366206	NM_012449.3(STEAP1):c.76G>A (p.Asp26Asn)	STEAP1, STEAP2-AS1 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595526	NM_012449.3(STEAP1):c.107G>A (p.Ser36Asn)	STEAP1, STEAP2-AS1 (S36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323209	NM_012449.3(STEAP1):c.153T>A (p.His51Gln)	STEAP1, STEAP2-AS1 (H51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546222	NM_012449.3(STEAP1):c.166G>C (p.Asp56His)	STEAP1, STEAP2-AS1 (D56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330768	NM_012449.3(STEAP1):c.187C>G (p.His63Asp)	STEAP1, STEAP2-AS1 (H63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323208	NM_012449.3(STEAP1):c.211T>C (p.Trp71Arg)	STEAP1, STEAP2-AS1 (W71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306390	NM_012449.3(STEAP1):c.319T>C (p.Tyr107His)	STEAP1, STEAP2-AS1 (Y107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171160	NM_012449.3(STEAP1):c.406G>C (p.Ala136Pro)	STEAP1, STEAP2-AS1 (A136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613710	NM_012449.3(STEAP1):c.410C>A (p.Ala137Glu)	STEAP1, STEAP2-AS1 (A137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357761	NM_012449.3(STEAP1):c.413T>C (p.Ile138Thr)	STEAP1, STEAP2-AS1 (I138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618663	NM_012449.3(STEAP1):c.508T>C (p.Phe170Leu)	STEAP1, STEAP2-AS1 (F170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206173	NM_012449.3(STEAP1):c.517G>A (p.Val173Ile)	STEAP1, STEAP2-AS1 (V173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361532	NM_012449.3(STEAP1):c.541T>A (p.Ser181Thr)	STEAP1, STEAP2-AS1 (S181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171162	NM_012449.3(STEAP1):c.550A>G (p.Met184Val)	STEAP1, STEAP2-AS1 (M184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455978	NM_012449.3(STEAP1):c.557G>A (p.Arg186Gln)	STEAP1, STEAP2-AS1 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474171	NM_012449.3(STEAP1):c.772G>A (p.Gly258Arg)	STEAP1, STEAP2-AS1 (G258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770940	NM_012449.3(STEAP1):c.804C>T (p.His268=)	STEAP1, STEAP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2464115	NM_012449.3(STEAP1):c.817G>A (p.Ala273Thr)	STEAP1, STEAP2-AS1 (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471451	NM_012449.3(STEAP1):c.823A>T (p.Asn275Tyr)	STEAP1, STEAP2-AS1 (N275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252504	NM_012449.3(STEAP1):c.839T>C (p.Ile280Thr)	STEAP1, STEAP2-AS1 (I280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471507	NM_012449.3(STEAP1):c.908T>C (p.Ile303Thr)	STEAP1, STEAP2-AS1 (I303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602582	NM_012449.3(STEAP1):c.965A>G (p.His322Arg)	STEAP1, STEAP2-AS1 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929825	GRCh37/hg19 7q21.13(chr7:88547866-89880949)x3	CFAP69, STEAP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 929384	GRCh37/hg19 7q21.12-21.13(chr7:88148465-89871132)x3	STEAP1, STEAP2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 815007	GRCh37/hg19 7q21.13(chr7:88533008-90192559)x1	STEAP1, GTPBP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688106	GRCh37/hg19 7q21.13(chr7:88343564-89895714)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686785	GRCh37/hg19 7q21.12-21.13(chr7:88151483-89895851)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563400	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89884701)x3	ZNF804B, STEAP1 +3 more	Copy number gain	not provided	GLikely benign
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 443970	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89885423)x4	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442891	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89895850)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442799	GRCh37/hg19 7q21.13(chr7:88337283-89884701)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394308	GRCh37/hg19 7q21.13(chr7:88314811-89882588)x3	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 63